Schumann H - Search Results

1

Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.

Hammami-Hauasli N, Schumann H, Raghunath M, Kilgus O, Lüthi U, Luger T, Bruckner-Tuderman L. Hammami-Hauasli N, et al. Among authors: schumann h. J Biol Chem. 1998 Jul 24;273(30):19228-34. doi: 10.1074/jbc.273.30.19228. J Biol Chem. 1998. PMID: 9668111 Free article.

2

Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.

Schumann H, Hammami-Hauasli N, Pulkkinen L, Mauviel A, Küster W, Lüthi U, Owaribe K, Uitto J, Bruckner-Tuderman L. Schumann H, et al. Am J Hum Genet. 1997 Jun;60(6):1344-53. doi: 10.1086/515463. Am J Hum Genet. 1997. PMID: 9199555 Free PMC article.

3

A combination of a common splice site mutation and a frameshift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin.

Hammami-Hauasli N, Kalinke DU, Schumann H, Kalinke U, Pontz BF, Anton-Lamprecht I, Pulkkinen L, Zimmermann M, Uitto J, Bruckner-Tuderman L. Hammami-Hauasli N, et al. Among authors: schumann h. J Invest Dermatol. 1997 Sep;109(3):384-9. doi: 10.1111/1523-1747.ep12336264. J Invest Dermatol. 1997. PMID: 9284109 Free article.

4

Two forms of collagen XVII in keratinocytes. A full-length transmembrane protein and a soluble ectodomain.

Schäcke H, Schumann H, Hammami-Hauasli N, Raghunath M, Bruckner-Tuderman L. Schäcke H, et al. Among authors: schumann h. J Biol Chem. 1998 Oct 2;273(40):25937-43. doi: 10.1074/jbc.273.40.25937. J Biol Chem. 1998. PMID: 9748270 Free article.

5

Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15.

Tasanen K, Eble JA, Aumailley M, Schumann H, Baetge J, Tu H, Bruckner P, Bruckner-Tuderman L. Tasanen K, et al. Among authors: schumann h. J Biol Chem. 2000 Feb 4;275(5):3093-9. doi: 10.1074/jbc.275.5.3093. J Biol Chem. 2000. PMID: 10652291 Free article.

6

Immunomapping of EBA sera to multiple epitopes on collagen VII: further evidence that anchoring fibrils originate and terminate in the lamina densa.

McMillan JR, Matsumura T, Hashimoto T, Schumann H, Bruckner-Tuderman L, Shimizu H. McMillan JR, et al. Among authors: schumann h. Exp Dermatol. 2003 Jun;12(3):261-7. doi: 10.1034/j.1600-0625.2003.120305.x. Exp Dermatol. 2003. PMID: 12823439

7

Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain.

Tasanen K, Floeth M, Schumann H, Bruckner-Tuderman L. Tasanen K, et al. Among authors: schumann h. J Invest Dermatol. 2000 Aug;115(2):207-12. doi: 10.1046/j.1523-1747.2000.00049.x. J Invest Dermatol. 2000. PMID: 10951237 Free article.

8

Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations.

Schumann H, Has C, Kohlhase J, Bruckner-Tuderman L. Schumann H, et al. Br J Dermatol. 2008 Aug;159(2):464-9. doi: 10.1111/j.1365-2133.2008.08695.x. Epub 2008 Jun 28. Br J Dermatol. 2008. PMID: 18565177

9

Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.

Kern JS, Grüninger G, Imsak R, Müller ML, Schumann H, Kiritsi D, Emmert S, Borozdin W, Kohlhase J, Bruckner-Tuderman L, Has C. Kern JS, et al. Among authors: schumann h. Br J Dermatol. 2009 Nov;161(5):1089-97. doi: 10.1111/j.1365-2133.2009.09333.x. Epub 2009 Jun 5. Br J Dermatol. 2009. PMID: 19681861

10

Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

Mecklenbeck S, Hammami-Hauasli N, Höpfner B, Schumann H, Kramer A, Küster W, Bruckner-Tuderman L. Mecklenbeck S, et al. Among authors: schumann h. J Invest Dermatol. 1999 Mar;112(3):398-400. doi: 10.1046/j.1523-1747.1999.00518.x. J Invest Dermatol. 1999. PMID: 10084325 Free article. Review. No abstract available.

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